Genomics Precision Diagnostic > Nephrology > Polycystic Kidney Disease Precision Panel

Polycystic Kidney Disease Precision Panel – 49 genes

Polycystic Kidney Disease (PKD) is an inherited multisystemic and progressive disorder characterized by cyst formation and enlargement of the kidneys and other organs. Cysts are noncancerous round sacs containing fluid.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Polycystic Kidney Disease (PKD) is an inherited multisystemic and progressive disorder characterized by cyst formation and enlargement of the kidneys and other organs. Cysts are noncancerous round sacs containing fluid. These cysts eventually deteriorate renal anatomy and physiology causing them to lose function over time. Polycystic kidney disease is classified into two distinct disorders based on the inheritance pattern: autosomal dominant PKD (ADPKD) and autosomal recessive PKF (ARPKD). ARPKD is the most aggressive form and presents with severe pulmonary insufficiency and progressive renal failure with early onset during infancy. If left untreated, ARPKD is lethal before adolescence. ADPKD usually manifests during adulthood and is the most common inherited cause of chronic kidney disease. Cystic kidneys are common causes of end-stage renal disease, both in children and adults.
The Igenomix Polycystic Kidney Disease Precision Panel can be used to make a directed and accurate differential diagnosis of renal cysts ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Polycystic Kidney Disease Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of polycystic kidneys presenting with:
- Gross hematuria
- Flank or abdominal pain
- Recurrent urinary tract infections
- Nephrolithiasis
- Palpable kidneys on abdominal exam
- Signs of chronic kidney disease (hypertension, fluid overload, uremia)
- Extrarenal cysts: hepatic, pancreatic, cerebral berry aneurysm
- Maternal oligohydramnios and Potter sequence

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of medical care with blood pressure control to prevent and delay end-stage renal disease, related complications and/or renal transplantation.
Provide regular ultrasound and laboratory monitoring improving clinical management of patients, enhancing further with emerging therapeutic options.
Genetic counselling session for risk assessment of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ALG8*	Polycystic Liver Disease With Or Without Kidney Cysts	AD,AR	99.5	22 of 22
*ALG9*	Polycystic Kidney Disease Potter Type I, With Microbrach-ycephaly, Hypertelorism, And Brachymelia	AR	99.99	6 of 6
*ANKS6*	Nephronophthisis	AR	93.45	17 of 17
*ARVCF*	22q11.2 Deletion Syndrome	–	99.95	2 of 2
*BICC1*	Cystic Renal Dysplasia, Autosomal Dominant Polycystic Kidney Disease	AD	99.89	5 of 5
*CDC73*	Parathyroid Carcinoma, Familial Isolated Hyperpara- thyroidism, Hyperparathyroidism- Jaw Tumor Syndrome	AD	100	95 of 95
*COMT*	22q11.2 Deletion Syndrome	AD	99.98	5 of 5
*CPT2*	Carnitine Palmitoyl Transferase II Deficiency	AD,AR	99.99	116 of 116
*DNAJB11*	Polycystic Kidney Disease With Or Without Polycystic Liver Disease	AD	99.89	6 of 6
*DYNC2H1*	Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome	AR,MU,D	99.78	214 of 221
*DZIP1L*	Autosomal Recessive Polycystic Kidney Disease	AR	99.83	5 of 5
*ESCO2*	Roberts Syndrome, Sc Phocomelia Syndrome	AR	99.69	32 of 32
*ETFA*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	92.33	32 of 32
*ETFB*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	100	21 of 21
*ETFDH*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	100	221 of 222
*EYA1*	Branchiootorenal Syndrome, Otofaciocervical Syndrome, Bor Syndrome	AD	100	197 of 199
*GANAB*	Autosomal Dominant Polycystic Kidney Disease	AD	100	19 of 19
*GATA3*	Hypoparathyroidism, Sensorineural Deafness, And Renal Disease	AD	100	81 of 81
*GLIS3*	Neonatal Diabetes Mellitus With Congenital Hypothyroidism	AR	99.83	21 of 21
*GP1BB*	Bernard-Soulier Syndrome, 22q11.2 Deletion Syndrome, Fetal And Neonatal Alloimmune Thrombocytopenia	AR	74.08	26 of 50
*HIRA*	22q11.2 Deletion Syndrome	–	99.99	5 of 5
*IFT43*	Cranioectodermal Dysplasia, Retinitis Pigmentosa, Short-Rib Thoracic Dysplasia With Polydactyly	AR	100	6 of 6
*JMJD1C*	22q11.2 Deletion Syndrome	–	99.09	27 of 27
*LRP5*	Polycystic Liver Disease With Or Without Kidney Cysts, Van Buchem Disease Type 2, Isolated Polycystic Liver Disease	AD,AR	98.12	265 of 269
*MKKS*	Bardet-Biedl Syndrome, Mckusick-Kaufman Syndrome	AR	89.96	71 of 71
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome Type 1	AR	99.98	49 of 49
*NEK1*	Amyotrophic Lateral Sclerosis, Orofaciodigital Syndrome Type 2	AD,AR,MU,D	99.83	73 of 74
*NPHP3*	Meckel Syndrome, Nephronophthisis, Renal-Hepatic- Pancreatic Dysplasia, Senior- Loken Syndrome	AR	99.99	84 of 84
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome Type 1, Simpson- Golabi –Behmel Syndrome Type 2, Primary Ciliary Dyskinesia	X,XR,XD,G	98.09	NA of NA
*PEX12*	Peroxisome Biogenesis Disorder 3a (Zellweger), Infantile Refsum Disease, Zellweger Syndrome	AR	100	38 of 38
*PEX5*	Cerebrohepatorenal Syndrome, Infantile Refsum Disease, Zellweger Syndrome	AR	100	12 of 12
*PKD1*	Autosomal Dominant Polycystic Kidney Disease	AD	97.98	2078 of 2136
*PKD2*	Autosomal Dominant Polycystic Kidney Disease	AD	95.5	352 of 359
*PKHD1*	Autosomal Recessive Polycystic Kidney Disease	AR	99.97	582 of 585
*RREB1*	22q11.2 Deletion Syndrome	–	99.92	8 of 8
*SEC24C*	22q11.2 Deletion Syndrome	–	99.98	NA of NA
*SHANK3*	Phelan-Mcdermid Syndrome, Monosomy 22q13.3	AD,MU,P	96.67	NA of NA
*SIX1*	Branchiootorenal Syndrome, Autosomal Dominant Deafness, Bor Syndrome	AD	73	20 of 20
*SKIV2L*	Trichohepatoenteric Syndrome	AR	99.98	33 of 33
*TBX1*	DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Deletion Syndrome, 22q11.2 Microduplication Syndrome	AD,AR	88.7	35 of 42
*TMEM107*	Meckel Syndrome, Orofaciodigital Syndrome XVI, Meckel Syndrome	AR	100	3 of 3
*TMEM231*	Joubert Syndrome With Oculorenal Defect, Meckel Syndrome, Orofaciodigital Syndrome Type 3	AR	98.63	20 of 21
*TRIP11*	Achondrogenesis Type Ia , Osteochondrodysplasia	AR	98.94	20 of 21
*TSC1*	Lymphangiol- iomyomatosis, Tuberous Sclerosis	AD	99.86	390 of 406
*TSC2*	Lymphangiol-eiomyomatosis, Tuberous Sclerosis	AD	100	1157 of 1159
*TTC37*	Trichohepatoenteric Syndrome	AR	100	66 of 66
*UFD1*	22q11.2 Deletion Syndrome	–	99.98	NA of NA
*WDR35*	Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia With Or Without Polydactyly	AR	100	31 of 33
*ZNF423*	Nephronophthisis, Joubert Syndrome With Oculorenal Defect	AD,AR	100	10 of 10

* Herança: AD: Autossômico Dominante; AR: Recessivo autossômico; X: X vinculado; XLR: Recessivo vinculado a X; Mi: Mitocondrial; Mu: Multifatorial; G: Herança gonossômica; D: Herança Digenic

Methodology

References

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